Classic Presentations Flashcards

1
Q

Abdominal pain, Ascites & Hepatomegaly

A

Budd-Chiari syndrome

Post hepatic venous thrombosis

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2
Q


Abdominal pain

Diarrhea. —–> recent ATB use
Leucocytosis

A

Clostridium difficile

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3
Q

Achilles’ tendon xanthoma

A

Familial hypercholesterolemia

⬇️ LDL Receptor signaling

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4
Q


Adrenal hemorrhage

hTA
DIC

A

Waterhouse-Friderichsen syndrome

meningococcemia

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5
Q

Blood Transfusion —-> ANAPHILAXIS

….?

A

IgA deficiency

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6
Q
#
Arachnodactyly
Lens dislocation (upward)
Aortic dissection 
Hyper flexible joints
A

MARFAN SYNDROME

fibrillin defect

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7
Q

Athlete with polycythemia

A

2* to EPO injection

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8
Q


Back pain

Fever
Night sweats

A

Pott disease

Vertebral TB

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9
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type 2

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10
Q

Bilateral Hiliar Adenopathy | uveitis

A

Sarcoidosis (noncaseating granulomas)

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11
Q
# 
Black eschar on face 

… In DBT w/ ketoacidosis

A

Mucor or Rhizopus fungal infection

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12
Q

Blue sclera

A

Osteogenesis imperfecta

Defect —> type I collagen

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13
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

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14
Q


Bone pain

Bone enlargement
Arthritis

A

Paget disease of the bone

+ active osteo blasts y clastos

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15
Q
#
Bounding pulses 
WIDE pulse pressure 
Diastolic heart MURMUR
Head BOBBING
A

Aortic Regurgitation

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16
Q
  • young female
    “Butterfly” facial rash
    Raynaud phenomenon
A

SYSTEMIC LUPUS ERYTHEMATOUS

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17
Q
#
Café-Abu-lait spots 
Lisch nodules ( iris hamartoma) 
Pheochromocytomas 
Optic Gliomas
Cutaneous neurofibromas
A

Neurofibromatosis type I

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18
Q
#
Cervical lymphadenopathy 
Desquamating rash
Coronary aneurysms
RED CONJUNCTIVAE AND TONGUE
Hand-Foot changes
A

—> KAWASAKI DISEASE

Tx: IVIG and AAS

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19
Q

“Cherry-Red Spots” on macula

A
  • Tay Sachs (ganglioside accumulation)
  • Niemann-Pick ( sphingomyelin accumulation)

➡️ central retinal artery occlusion

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20
Q

Chest pain on exertion

A

Angina

  • stable: moderate exertion
  • unstable: minimal exertion or rest
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21
Q


Chest pain

Pericardial effusion/friction rub
Persistent fever following MI

A

DRESSLER SYNDROME

Autoimmune-mediated post-MI fibrinous PERICARDITIS

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22
Q

Child use arms to stand up from squat

A

-> Growers sign

Duchenne muscular dystrophy

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23
Q

Child with fever ….> red rush on face that spreads to body

A

Erythema infectiosum
5th disease
“Slapped cheeks” —–> parvovirus B19

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24
Q

Chorea
Dementia
CAUDATE DEGENERATION

A

Huntington disease
AD

CAG CAG CAG

CAG-AD

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25
Q


ChorioRetinitis

HYDROCEPHALUS
Intracranial Ca+

A

CONGENITAL TOXOPLASMOSIS

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26
Q

Chronic exercise intolerance

Myalgia - Fatigue -painful cramps- myoglobinuria

A

McAldre disease

Skeletal muscle glycogen phosphorylase deficiency

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27
Q

Cold intolerance

Weight gain

Brittle hair

A

hipothyroidism

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28
Q

Continuous “machine-like” heart murmur

A

PDA

Close w/ INDOMETHACIN

Keep open w/ PGE analogs

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29
Q

#

  • cutaneous flushing
  • diarrhea
  • bronchospasm
A

— CARCINOID SYNDROME —

+ 5-HIAA

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30
Q

AIDS

– Dark Purple skin/mouth nodules

A

KAPOSI SARCOMA

HHV-8

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31
Q

Deep, labored breathing/hyperventilation

A

DBT KETOACIDOSIS

Kussmaul respirations

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32
Q

Dilated cardiomyopathy
Edema
OH’ or malnutrition

A

Wet BERI BERI

thiamine [vit B1] deficiency

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33
Q

Dog or Cat bite …. 🐕🐈

Infection by…

A

Pasteurella multocida

Cellulitis at inoculation

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34
Q


DRY EYES

DRY MOUTH
ARTHRITIS

A

Sjögren syndrome

—> autoimmune destruction of EXOCRINE GLANDS!

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35
Q

Dysphagia ( esophageal webs)
Glossitis
iron deficiency
anemia

A

Plummer-Vinson syndrome

..¡might progress to esophageal squamous cell ca !

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36
Q


Elastic skin

Hypermobility of joints
++ bleeding tendency

A

Ehler-Danlos syndrome

Defect/
- Type V collagen

         - type III —vascular type ED
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37
Q

Episodic vertigo

Tinnitus

hearing loss

A

Meniere disease

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38
Q
#
Erythroderma 
Lymphadenopathy
Hepatosplenomegaly
ATYPICAL T CELLS 

pautier microabscesses

A

~ Mycosis fungoides ( cutaneous T-cell lymphoma)

~ Sézary ( Mycosis fungoides + malignant T-cells in blood)

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39
Q

4 f

Cholelithiasis (gallstones)

A

Fat
Female
Forty
Fertile

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40
Q
#
Fever 
Chills
Headache 
Myalgia
                                        ...--> Tx for Syphilis
A

Jarisch-Herxheimer reaction

Rapid lysis of Spirochetes–> endotoxin release

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41
Q

B symptoms of Lymphoma

A

Fever
Night sweats
Weight loss

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42
Q

Copper accumulation

—> golden brown rings around peripheral cornea

A

Wilson disease

–> Kayser-Fleischer rings

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43
Q


Gout

Intellectual disability
Self-mutilating

A

Lesch-Nyhan syndrome

X-linked, recessive

HGPRT deficiency

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44
Q
Hepatosplenomegaly 
pancytopenia
Osteoporosis 
Bone crises 
Avascular necrosis of femoral head
A

GAUCHER disease

Glucocerebrocidase deficiency

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45
Q

Hamartomatous GI polyps

Hiperpigmentation : mouth feet hands genitalia

A

Peutz-Jeghers syndrome (inherited)

Benign polyps - obstruction!
Can -> CANCER!

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46
Q

Heredirary nephritis
Sensorineural hearing loss
Cataracts/ lens dislocation

A

Alport syndrome

–> mutation in Collagen IV

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47
Q

Hyperphagia
HyperSex
HyperDoctility
HyperOral

A

Klüver-Bucy syndrome

Bilateral AMIGDALA lesion

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48
Q

HypeRreflexia
HyperTonia
Babinski +

A

UNM damage

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49
Q

hypoRreflexia
hypoTonia
atrophy
fasciculations

A

LMN damage

50
Q

Hypodermic, polycythemia, hypercapnia

A

Chronic Bronchitis
“Blue Bloater”
Hyperplasia of mucous cell

51
Q

Indurated, Ulcerated genital lesions
Nonpainful
Painful

A

NON pain: Chancre 1* syphilis

PAINFUL, exudate : chancroid ( h.ducreyi)

52
Q
Infant 
Cleft lip/palate
microcephaly or holoprocencephaly
Polydactyly
Cutis aplasia
A

PATAU SYNDROME

Trisomy 13

53
Q

Infant

hypoglycemia Hepatomegalia

A

Cori disease (debranching enzyme def)

Von Gierke disease (glu-6-phosphate def) +severe

54
Q

Infant with microcephaly
Rocker-bottom feet
Clenched hands
Structural heart defect

A

Edwards syndrome (trisomy 18)

55
Q

Jaundice

Palpable distended non-tender gallbladder

A

Courvoisier sign

distal malignant obstruction of biliary tree

56
Q

Large rash with bull’s-eye appearance 🐮🐂

A

Erythema chronicum migrans from IXODES tick bite

Lyme disease: Borrelia

57
Q

“Lucid Interval” after TX brain injury

A

Epidural Hematoma

Middle meaning earl artery rupture

58
Q

Male child
Recurrent Infections
No mature B cells

A

Burton disease (X-linked agammaglobulinemia)

59
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia

Defect in platelet aggregation – lack of Gp IIb/IIIa

60
Q

Muffled heart sounds
Distended neck veins
hypotension

A

Beck Triad —> Cardiac Tamponade

61
Q

Multiple colon polyps
Osteomas/soft tissue tumors
Impacted/supernumerary teeth

A

Gardner syndrome

Subtype of FAP

62
Q

Myopathy (hypertrophic cardiomyopathy)

Exercise intolerance

A

Pompe disease

Lysosomal æ-1,4-glucosidase def

63
Q

Postpartum

… No lactation
… Absent menstruation
… Cold intolerance

A

Sheehan syndrome

Pituitary Infarction

64
Q

Painful fingers/toes chanching color

COLD OR STRESS

Blue–>white–>Red

A

Raynaud phenomenon

65
Q

Painful, Raised Red lesions on pads of fingers/toes

A

Osler nodes

–> infective endocarditis (immune complex deposition)

66
Q

Painless Erythematous lesions on palms and soles

A

Janeway lesions

Infective Endocarditis, Septic emboli/microabscesses

67
Q

Painless jaundice

A

Cancer of the pancreatic head.

68
Q

Palpable purpura on buttocks/legs
Joint pain
Abdominal pain (child)
Hematuria

A

Henoch-Schönlein

IgA vasculitis affecting skin & kidneys

69
Q

MEN 1

A

Pancreatic
Pituitary
Parathyroid

AD

70
Q

Periorbital and/or peripheral edema
Proteinuria >3.5g/day
hypoalbuminemia
HyperCholesterolemia

A

Nephrotic syndrome

71
Q

“Pink complexion”
Dyspnea
Hyperventilation

A

Emphysema
“Pink puffer”

  • CENTRIacinar [smoking]
  • PANacinar [æ1-antitrypsin deficiency]
72
Q
Polyuria
Renal tubular Acidosis type II
Growth failure 
Electrolyte imbalances 
hypoPhosphatemic rickets
A

Fanconi syndrome

Dysfx proximal convoluted tubule

73
Q

6 “p” of LICHEN PLANUS

A

Pruritic Purple Polygonal Planar Papules & Plaques

74
Q

Ptosis
Miosis
Anhidrosis

A

Horner syndrome

Sympathetic chain lesion

75
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis ( Argill Robertson pupil)

76
Q

Rapidly progressive limb weakness that ASCENDS

… Following GI/Respiratory Infection

A

Guillain-Barré syndrome

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULOPATHY

77
Q

Rash on Palms & Soles

3

A

Coxsackie A
2* Syphilis
Rocky Mountain spotted fever

78
Q

Red “currant jelly” sputum in Oh or DBT

A

Klebsiella pneumoniae PNEUMONIA

79
Q

Red “currant jelly” stools

A

Acute mesenteric ischemia (adults)

Intussusception (children)

80
Q

Red, itchy, swollen rash of nipple/areola

A

Pages disease of the Breast (sign of underlying neoplasm)

81
Q

Red urine in the morning

Fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

82
Q

Von Hippel-Lindeau disease ( dominant tumor suppressor gene mutation)

A

Renal cell carcinoma (bilateral)
Hemangioblastomas
Angiomatosis
Pheochromocytoma

83
Q
Resting tremor 
Rigidity
Akinesia 
Postural instability 
Shuffling gait
A

Parkinson’s disease

Loss of DOPAMINERGIC neurons in SUBSTANTIA NIGRA COMPACTA

84
Q

Retinal hemorrhages with pale center

A

Roth Spots

BACTERIAL ENDOCARDITIS

85
Q

Severe jaundice in neonate

Congenital unconjugated hyperbilirubinemia

A

Crigler-Najjar syndrome

86
Q

Severe RLQ pain with palpating of LLQ

Severe RLQ pain with deep tenderness

A

Rovsing sign –> Acute Apex

McBurney sign –> Acute Apex

87
Q
Short stature 
Café au lait spots 
Thumb/Radial defects 
\+incidence of tumors/leukemia 
Aplastic anemia
A

Fanconi Anemia

Loss of DNA crosslink repair
–> AML

88
Q

Single palmar crease

A

Down syndrome

89
Q

Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility

A

Kartagener syndrome

DYNEIN ARM DEFECT AFFECTING CILIA

90
Q

Slow, Progressive muscle weakness in boys

A

Becker muscular dystrophy

X-linked missense mutation in DYSTROPHIN

91
Q

Small irregular red sports on bucal/lingual mucosa with blue-withe centers

A

Koplik spots ( measles-rubeola- virus)

92
Q

Smooth, moist, painless, WART-LIKE lesions on genitals

A

Condylomata lata (2* Syphilis)

93
Q

Splinter hemorrhages in fingernails

A

Bacterial Endocarditis

94
Q

“Strawberry tongue”

2

A

Scarlet fever

Kawasaki disease

95
Q
Streak ovaries 
Congenital HEART disease
HORSESHOE KIDNEY 
Cystic Hygroma at birth 
Short stature 
WEBBED NECK 
Lymph edema
A

Turner Syndrome (45, X0)

96
Q

Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae

A

Scurvy
Vit C deficiency
Can’t hydroxilate PROLINE/LYSINE for collagen synthesis

97
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic Stenosis

98
Q
Telangiectasias 
Recurrent epistaxis
Skin decoloration
A-V malformation 
GI bleeding 
Hematuria
A

Osler-Weber-Rendu syndrome

99
Q

MEN 2A

AD - mutation RET

A

Thyroid
Parathyroid

Pheochromocytoma

100
Q

MEN 2B

AD - mutation RET

A

Thyroid

Pheochromocytoma
Ganglioneuromatosis

101
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UNM lesion)

102
Q

[ Urethritis, Conjunctivitis, Arthritis ] male

A

Reactive Arthritis ~ HLA-B27

103
Q

Vascular birthmark (port-wine stain) on the face

A

Nevus flammeus

Benign but assoc. w/ Struge-Weber syndrome

104
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (Oh- & bulimic )

105
Q
Weight loss 
Diarrhea 
Arthritis 
Fever 
Adenopathy
A

Whipple disease (Tropheryma whippeli)

106
Q

Worst headache of my life..

A

Subarachnoid hemorrhage

107
Q
Café-au-lait spots (UNIlateral)
Polyostotic fibrous
Dysplasia 
Precocious puberty 
Multiple endocrine abnormalities
A

McCune-Albright syndrome

Gš-protein activating mutation

108
Q
Recurrent cold 
(non inflamed) abscesses 
Eczema 
⬆️⬆️ HIGH SERUM IgE 
⬆️⬆️ EOSINOPHILS
A

Hyper-IgE syndrome

JOB SYNDROME (neutrophil chemotaxis abnormality)

109
Q

Fever, cough, conjunctivitis, coryza, diffuse rash.

A

Measles (Sarampion)

110
Q

Chest pain + ST depressions

A

Angina ( ➖ troponins)

NSTEMI (➕ troponins)

111
Q

Skin hyperpigmentation
hTA
Fatigue

A

1* adrenocortical insufficiency -> ⬆️ ACTH, ⬆️ æ-MSH

(eg, Addison)

112
Q

Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

A

MYXEDEMA ( hipothyroidism, Graves {peritibial})

113
Q

Enlarged Hard left SUPRAclavicular node

A

Virchow node (abdominal metastasis)

114
Q

Painful blue fingers/toes

Hemolytic anemia

A

Cold agglutinin disease
autoimmune hemolytic anemia ->

mycoplasma pneumoniae
Infectious mononucleosis
CLL

115
Q

WBC that look “smudged”

A

CLL

116
Q

Neonate with arm paralysis following difficult birth

Arm in “waiter’s tip” position

A

Erb-Duchenne plays

Superior trunk C5/C6 brachial plexus injury

117
Q

Anterior drawer sign +

A

Anterior Cruciate Ligament Injury

118
Q

Swollen, Hard, painful finger joints in an elderly

Pain worse w/ activity

A

OSTEOARTHRITIS
Osteophytes - PIP [Bouchard nodes]
- DIP [Heberden nodes]

119
Q

Anti-desmoglein (anti-desmosome) antibodies

A
Pemphigus Vulgaris 
#Blistering
120
Q

Nystagmus
Intention tremor
Scanning SPEACH
Bilateral inter nuclear ophthalmoplegia

A

MULTIPLE SCLEROSIS

121
Q

Von Hipple Lindau

4

A

Renal cell carcinoma (bilateral)
Hemangioblastomas
Angiomatosis
Pheochromocytoma